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Sponsored by: |
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00344331 |
This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rate of progression of biochemical marker abnormalities in a group of NPC patients who will later be invited to enroll in a treatment trial.
Patients of any age with NPC may be eligible for this study. Participants undergo the following procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center.
Condition |
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Neimann-Pick Disease |
Study Type: | Observational |
Official Title: | Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C |
Estimated Enrollment: | 300 |
Study Start Date: | June 2006 |
Niemann-Pick type C disease (NPC) is an autosomal recessive, lysosomal storage disorder characterized by accumulation of cholesterol and gangliosides. NPC is a rare (estimated prevalence of 1:120,000-150,000) neurodegenerative disorder with a wide clinical spectrum and a variable age of onset. Classically, children with NPC demonstrate neurological dysfunction with cerebellar ataxia, dysarthria, seizures, vertical gaze palsy, motor impairment, dysphagia, psychotic episodes, and progressive dementia. In general, adolescent and adult onset forms have a more insidious onset and slower progression. There is no effective treatment for NPC and it is a lethal disorder. A major impediment to the testing of therapeutic interventions is the lack of well-defined outcome measures. The purpose of this protocol is to obtain both baseline and rate of progression data on clinical and biochemical markers that may later be used as an outcome measure in a clinical trial.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
All patients with an established diagnosis of NPC (biochemical or molecular) will be considered for this study.
Both NPC1 and NPC2 patients are eligible.
Patients of any age, sex, or ethnic background will be eligible for this study.
Healthy Children age 3 - 18 are eligible.
EXCLUSION CRITERIA:
Patients will be excluded if they cannot travel to the NIH because of their medical condition or are too ill to be cared for at home.
We will exclude NPC patients with rapidly progressive neonatal cholestasis.
We will not enroll patients with stage 4 (non-ambulant with vegetative disturbances).
Patients will be excluded if they are pregnant.
Children with chronic medical problems or on medications will be excluded.
Patients will be excluded from the MRI section of the study if they have:
Although priority will be given to patients not on Zavesca, because of the potential limited number of patients, it will not be an exclusion criterion. Patients on Zavesca may be excluded from a future therapeutic trial.
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 |
Study ID Numbers: | 060186, 06-CH-0186 |
Study First Received: | June 23, 2006 |
Last Updated: | December 6, 2008 |
ClinicalTrials.gov Identifier: | NCT00344331 |
Health Authority: | United States: Federal Government |
NPC Cholesterol Sphingolipids Neurodegenerative |
Lysosomal Storage Niemann Pick Type C NPC Lysosomal Storage Disorder |
Lipid Metabolism, Inborn Errors Pick Disease of the Brain Sphingolipidoses Frontotemporal dementia Brain Diseases Aphasia, Primary Progressive Signs and Symptoms Metabolism, Inborn Errors Niemann-Pick Diseases Histiocytosis Mental Disorders Primary progressive aphasia Brain Diseases, Metabolic, Inborn Dementia Neurobehavioral Manifestations |
Niemann-Pick Disease Delirium Speech Disorders Metabolic Diseases Aphasia Lysosomal Storage Diseases Sphingolipidosis Central Nervous System Diseases Language Disorders Cognition Disorders Niemann-Pick Disease, Type C Lymphatic Diseases Delirium, Dementia, Amnestic, Cognitive Disorders Genetic Diseases, Inborn Niemann-Pick Disease, Type A |
Reticuloendotheliosis Lysosomal Storage Diseases, Nervous System Nervous System Diseases Histiocytosis, Non-Langerhans-Cell |